Clinical Characteristics

The most typical features of the disorder caused by RORA mutations include:

  • Hypotonia and delay in reaching developmental milestones such as sitting up, crawling and walking
  • Intellectual disability (requiring special education); the use of the first words or phrases is frequently delayed
  • Early-onset ataxia induced by cerebellar hypoplasia affecting predominantly the vermis
  • Behavioral problems, namely autism spectrum disorder, borderline personality disorder, or hyperactivity
  • Epilepsy; the predominant seizure semiology was that of a generalized epilepsy with absences, drop attacks, and tonic-clonic seizure sub-types

Other common problems could include:

  • Visual problems